Product Details

SNP ID
rs191486604
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:161350208 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCGGACACTTCATGTGCATGCAG[T/C]CTCCTGTTGGGGGCAGAAAACAAAG
Phenotype
MIM: 602544
Polymorphism
T/C, Transition Substitution
Allele Nomenclature
Literature Links
PARK2 PubMed Links

Gene Details

Gene
PARK2
Gene Name
parkin RBR E3 ubiquitin protein ligase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004562.2 1420 Missense Mutation GAC,GGC D430G NP_004553.2
NM_013987.2 1420 Missense Mutation GAC,GGC D402G NP_054642.2
NM_013988.2 1420 Missense Mutation GAC,GGC D281G NP_054643.2
XM_011535863.1 1420 Missense Mutation GAC,GGC D429G XP_011534165.1
XM_017010908.1 1420 Missense Mutation GAC,GGC D468G XP_016866397.1
XM_017010909.1 1420 Missense Mutation GAC,GGC D350G XP_016866398.1

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